Published in Biotechniques on February 01, 1994
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature (2001) 7.95
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet (1998) 6.82
Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region. Nucleic Acids Res (1986) 3.86
Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med (1995) 3.60
Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirus-encoded human beta-globin. Nature (2000) 2.84
Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis (2001) 2.69
Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. EMBO J (1986) 2.64
Toxic shock syndrome toxin 1 binds to major histocompatibility complex class II molecules. Proc Natl Acad Sci U S A (1989) 2.53
Glucose-6-phosphate dehydrogenase deficient red cells: resistance to infection by malarial parasites. Science (1969) 2.21
Increased sickling of parasitised erythrocytes as mechanism of resistance against malaria in the sickle-cell trait. Lancet (1970) 2.11
A transgenic mouse model of sickle cell disorder. Nature (1990) 2.05
Adaptation of Plasmodium falciparum to glucose 6-phosphate dehydrogenase-deficient host red cells by production of parasite-encoded enzyme. Nature (1985) 2.04
Human CD1d-glycolipid tetramers generated by in vitro oxidative refolding chromatography. Proc Natl Acad Sci U S A (2001) 1.99
TbetaR-I(6A) is a candidate tumor susceptibility allele. Cancer Res (1999) 1.99
Blood group antigens and antibodies in Nigeria. Ann Trop Med Parasitol (1974) 1.94
Murine embryonic stem cells without pig-a gene activity are competent for hematopoiesis with the PNH phenotype but not for clonal expansion. J Clin Invest (1997) 1.86
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol (1999) 1.84
Glucose-6-phosphate dehydrogenase and malaria. Greater resistance of females heterozygous for enzyme deficiency and of males with non-deficient variant. Lancet (1972) 1.83
A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: a review. Leukemia (1995) 1.81
Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO J (1994) 1.80
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Hum Genet (1999) 1.80
Comparison of GdA and GdB activities in Nigerians. A study of the variation of the G6PD activity. Am J Hum Genet (1977) 1.79
Mutations downstream of the polyadenylation site of a Xenopus beta-globin mRNA affect the position but not the efficiency of 3' processing. Cell (1986) 1.76
Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East. Am J Hum Genet (1990) 1.75
Specific methylation pattern at the 3' end of the human housekeeping gene for glucose 6-phosphate dehydrogenase. EMBO J (1984) 1.75
Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci U S A (1999) 1.75
Mechanism of action of streptomycin in E. coli: interruption of the ribosome cycle at the initiation of protein synthesis. Proc Natl Acad Sci U S A (1968) 1.72
Genetics of red cells and susceptibility to malaria. Blood (1979) 1.71
Asthma severity, atopic status, allergen exposure and quality of life in elderly persons. Ann Allergy Asthma Immunol (2001) 1.70
cDNA sequences of human glucose 6-phosphate dehydrogenase cloned in pBR322. Nature (1981) 1.69
Type I transforming growth factor beta receptor maps to 9q22 and exhibits a polymorphism and a rare variant within a polyalanine tract. Cancer Res (1998) 1.68
High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human hemoglobin in murine erythrocytes. Genes Dev (1989) 1.63
Glucose-6-phosphate dehydrogenase deficiency. Baillieres Best Pract Res Clin Haematol (2000) 1.60
The universal stress protein paralogues of Escherichia coli are co-ordinately regulated and co-operate in the defence against DNA damage. Mol Microbiol (2002) 1.59
In vivo telomere dynamics of human hematopoietic stem cells. Proc Natl Acad Sci U S A (1997) 1.58
Paroxysmal nocturnal hemoglobinuria: evidence for monoclonal origin of abnormal red cells. Blood (1970) 1.57
The heart in eosinophilic leukaemia. Afr J Med Sci (1970) 1.54
Staphylococcal enterotoxin B and toxic shock syndrome toxin-1 bind to distinct sites on HLA-DR and HLA-DQ molecules. J Immunol (1989) 1.54
Effect of isotypes and allelic polymorphism on the binding of staphylococcal exotoxins to MHC class II molecules. J Immunol (1990) 1.53
A study of poliovaccination in infancy: excretion following challenge with live virus by children given killed or living poliovaccine. J Hyg (Lond) (1966) 1.51
Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. J Clin Invest (1992) 1.50
Indolent cutaneous prodrome of fatal HTLV-I infection. Lancet (1990) 1.48
Polymerase chain reaction automated at low cost. Nucleic Acids Res (1988) 1.46
Serum erythropoietin levels in paroxysmal nocturnal haemoglobinuria: implications for therapy. Br J Haematol (1996) 1.38
Glucose-6-phosphate dehydrogenase. Adv Hum Genet (1985) 1.38
Purchasing research from or for the NHS? J R Coll Physicians Lond (1995) 1.38
Transcripts, genes and bands in 315,000 base-pairs of Drosophila DNA. J Mol Biol (1983) 1.35
Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria. Lancet (1994) 1.34
Paroxysmal nocturnal haemoglobinuria. Baillieres Clin Haematol (1989) 1.34
The molecular basis of glucose-6-phosphate dehydrogenase deficiency. Trends Genet (1992) 1.33
Parental occupation and other environmental factors in the etiology of leukemias and non-Hodgkin's lymphomas in childhood: a case-control study. Tumori (1990) 1.33
Different properties of glucose 6-phosphate dehydrogenase from human erythrocytes with normal and abnormal enzyme levels. Biochem Biophys Res Commun (1965) 1.33
Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site. Proc Natl Acad Sci U S A (1984) 1.30
Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood (1992) 1.30
Red cell glucose-6-phosphate dehydrogenase status and pyruvate kinase activity in a Nigerian population. Trop Med Int Health (2000) 1.24
Genetic factors in malaria. Bull World Health Organ (1974) 1.24
Pregnancy in homozygous sickle-cell anaemia. J Obstet Gynaecol Br Commonw (1972) 1.21
Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood (1997) 1.19
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. Proc Natl Acad Sci U S A (1990) 1.19
G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews. Hum Genet (1993) 1.17
Polyadenylation of the Xenopus beta 1 globin mRNA at a downstream minor site in the absence of the major site and utilization of an AAUACA polyadenylation signal. EMBO J (1985) 1.16
Transport of 4-hydroxyphenylacetic acid in Klebsiella pneumoniae. Arch Biochem Biophys (1992) 1.15
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene. Hum Mutat (1993) 1.15
Human erythrocyte glucose 6-phosphate dehydrogenase: structure and function in normal and mutant subjects. Curr Top Hematol (1978) 1.14
Glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase. A novel bifunctional enzyme in malaria parasites. Eur J Biochem (2001) 1.14
Evolutionary implications of a complex pattern of DNA sequence homology extending far upstream of the hsp70 genes at loci 87A7 and 87C1 in Drosophila melanogaster. J Mol Biol (1982) 1.13
Bone marrow transplants for paroxysmal nocturnal haemoglobinuria. Br J Haematol (1999) 1.13
DNA rearrangements of immunoglobulin genes correlate with phenotypic markers in B-cell malignancies. Mol Biol Med (1984) 1.13
Two populations of erythroid cell progenitors in paroxysmal nocturnal hemoglobinuria. Blood (1984) 1.13
Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells. Science (1979) 1.13
Analysis of beta, gamma, and delta T-cell receptor genes in mycosis fungoides and Sezary syndrome. Cancer (1991) 1.12
Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. Hum Mol Genet (1992) 1.12
Polyribosome depletion and blockage of the ribosome cycle by streptomycin in Escherichia coli. J Mol Biol (1969) 1.12
Relationship between the genes for glucose-6-phosphate dehydrogenase and for haemoglobin in a Nigerian population. Nature (1968) 1.11
Specific defect in N-acetylglucosamine incorporation in the biosynthesis of the glycosylphosphatidylinositol anchor in cloned cell lines from patients with paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci U S A (1993) 1.11
Abnormal T-cell repertoire is consistent with immune process underlying the pathogenesis of paroxysmal nocturnal hemoglobinuria. Blood (2000) 1.10
Decreased malaria morbidity in the Tharu people compared to sympatric populations in Nepal. Ann Trop Med Parasitol (1988) 1.10
Dyskeratosis and ribosomal rebellion. Nat Genet (1998) 1.10
Paroxysmal nocturnal hemoglobinuria. Semin Hematol (1989) 1.10
Genetic heterogeneity of "normal" human erythrocyte glucose-6-phosphate dehydrogenase: an isoelectrophoretic polymorphism. Proc Natl Acad Sci U S A (1979) 1.10
Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. Blood (2000) 1.09
Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis (1997) 1.08
Heterogeneity of T-cell beta-chain gene rearrangements in human leukaemias and lymphomas. EMBO J (1985) 1.08
Glucose 6-phosphate dehydrogenase deficiency and sickle cell anemia: frequency and features of the association in an African community. Blood (1975) 1.08
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum Genet (2001) 1.08
Enzymic properties of different types of human erythrocyte glucose-6-phosphate dehydrogenase, with characterization of two new genetic variants. J Clin Invest (1968) 1.07
An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. Am J Hum Genet (1988) 1.07
Tissue-specific levels of human glucose-6-phosphate dehydrogenase correlate with methylation of specific sites at the 3' end of the gene. Proc Natl Acad Sci U S A (1985) 1.07
Retroviral-mediated gene transfer of a mutant H-ras gene into normal human bone marrow alters myeloid cell proliferation and differentiation. Exp Hematol (1994) 1.07
The complete nucleotide sequence of the mitochondrial DNA genome of the rainbow trout, Oncorhynchus mykiss. J Mol Evol (1995) 1.07
Direct detection of the porcine reproductive and respiratory syndrome (PRRS) virus by reverse polymerase chain reaction (RT-PCR). Arch Virol (1994) 1.07